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Genetic and Rare Diseases Information Center (GARD)

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Townes-Brocks syndrome


Other Names for this Disease
  • Anus, imperforate, with hand, foot and ear anomalies
  • Deafness, sensorineural, with imperforate anus and hypoplastic thumbs
  • Imperforate anus with hand, foot and ear anomalies
  • Rare genetic disease
  • REAR syndrome
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Overview

Townes-Brocks syndrome is a genetic condition characterized by an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs. Most affected individuals have at least two of these three main features. The condition is caused by mutations in the SALL1 gene which provides instructions for making proteins that are involved in the formation of tissues and organs before birth. It follows an autosomal dominant pattern of inheritance.[1]
Last updated: 3/25/2015

References

  1. Townes-Brocks Syndrome. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition/townes-brocks-syndrome. Accessed 3/25/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Townes-Brocks syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
    Orphanet
    Orphanet
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Townes-Brocks syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Anus, imperforate, with hand, foot and ear anomalies
  • Deafness, sensorineural, with imperforate anus and hypoplastic thumbs
  • Imperforate anus with hand, foot and ear anomalies
  • Rare genetic disease
  • REAR syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.